Variant Results

or

Results for "PSD3"

Variant Events: 82

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

PSD3

AU3702307

chr8:
18599554-18599554

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

AU3915301

chr8:
18723128-18723128

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

2-1514-003

chr8:
18871333-18871333

C

A

upstream

De novo

-

Yuen2017 G

PSD3

11768.p1

chr8:
18662034-18662034

G

A

exonic

Mosaic Pat.

synonymous SNV

NM_206909
NM_015310

c.C306T
c.C1908T

p.L102L
p.L636L

14.74

4.0E-4

Dou2017 E

PSD3

AU3702307

chr8:
18437169-18437169

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

CC1392_201

chr8:
18622831-18622831

A

G

intronic

De novo

-

Fu2022 E

PSD3

1-0138-004

chr8:
18824826-18824826

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

AU043804

chr8:
19036697-19036697

C

A

intergenic

De novo

-

Yuen2017 G

PSD3

2-1315-003

chr8:
18679130-18679130

C

G

intronic

De novo

-

Yuen2017 G

PSD3

AU011903

chr8:
18607738-18607738

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

Shi2013:1

chr8:
18656816-18656816

G

T

exonic

Inherited

nonsynonymous SNV

NM_206909
NM_015310

c.C469A
c.C2071A

p.L157I
p.L691I

20.3

-

Shi2013 G

PSD3

11842_p1

chr8:
18730164-18730165

TC

T

exonic

De novo

frameshift deletion

NM_015310

c.209delG

p.G70fs

-

Fu2022 E

PSD3

A4

chr8:
19023569-19023569

C

A

intergenic

De novo

-

Wu2018 G

PSD3

5-0050-003

chr8:
18647392-18647392

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

14153.p1

chr8:
18472923-18472923

C

A

intronic

De novo

-

Turner2016 G

PSD3

2-1525-003

chr8:
18542042-18542042

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

13539.p1

chr8:
18845803-18845803

G

T

intronic

De novo

-

Turner2016 G

PSD3

2-1295-003

chr8:
18429682-18429682

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PSD3

1-0271-004

chr8:
18841365-18841365

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

AU2123302

chr8:
18772175-18772175

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

5-0117-003

chr8:
18953031-18953031

A

G

intergenic

De novo

-

Yuen2017 G

PSD3

1-0215-006

chr8:
18758526-18758526

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

1-0936-003

chr8:
19004065-19004065

A

G

intergenic

De novo

-

Yuen2017 G

PSD3

2-1255-003

chr8:
18555554-18555554

G

A

intronic

De novo

-

Yuen2017 G

PSD3

2-1689-003

chr8:
19023652-19023652

T

C

intergenic

De novo

-

Yuen2017 G

PSD3

AU3881302

chr8:
18478645-18478645

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

1-0054-004

chr8:
18429903-18429903

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

1-0385-003

chr8:
18410604-18410604

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

1-0695-003

chr8:
18386374-18386374

C

T

UTR3

De novo

-

Trost2022 G

PSD3

3-0392-000

chr8:
19034333-19034333

C

T

intergenic

De novo

-

Yuen2016 G

PSD3

1-0469-003

chr8:
18475692-18475702

TCAGGAAATCT

GCCGTATTTGA

intronic

De novo

-

Trost2022 G

PSD3

1-0018-004

chr8:
18476149-18476153

GTATT

TTGACA

intronic

De novo

-

Trost2022 G

PSD3

MT_189.3

chr8:
18439420-18439420

G

A

intronic

De novo

-

Trost2022 G

PSD3

MSSNG00329-004

chr8:
18472107-18472107

G

C

intronic

De novo

-

Trost2022 G

PSD3

SP0201037

chr8:
18432734-18432734

T

C

exonic

De novo

nonsynonymous SNV

NM_206909
NM_015310

c.A941G
c.A2543G

p.H314R
p.H848R

24.0

-

Trost2022 G

PSD3

Shi2013:2

chr8:
18656816-18656816

G

T

exonic

Inherited

nonsynonymous SNV

NM_206909
NM_015310

c.C469A
c.C2071A

p.L157I
p.L691I

20.3

-

Shi2013 G

PSD3

AU2165301

chr8:
18497458-18497458

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

2-1764-004

chr8:
18433781-18433781

A

G

intronic

De novo

-

Trost2022 G

PSD3

SP0065576

chr8:
18793549-18793549

T

C

exonic

De novo

nonsynonymous SNV

NM_015310

c.A125G

p.D42G

13.79

-

Trost2022 G
Zhou2022 GE

PSD3

MSSNG00108-004

chr8:
18386839-18386839

C

G

UTR3

De novo

-

Trost2022 G

PSD3

1-0269-005

chr8:
18638165-18638165

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

1-0054-003

chr8:
18429903-18429903

T

ATATGATGCAGATA

intronic

De novo

-

Trost2022 G

PSD3

AU2310301

chr8:
18542817-18542817

T

G

intronic

De novo

-

Trost2022 G

PSD3

2-1350-004

chr8:
18906722-18906722

C

G

intergenic

De novo

-

Yuen2017 G

PSD3

2-0139-003

chr8:
18584418-18584418

C

G

intronic

De novo

-

Trost2022 G

PSD3

MT_61.3

chr8:
18532751-18532751

G

A

intronic

De novo

-

Trost2022 G

PSD3

7-0240-003

chr8:
18537552-18537552

C

T

intronic

De novo

-

Trost2022 G

PSD3

7-0402-003

chr8:
18508022-18508022

A

C

intronic

De novo

-

Trost2022 G

PSD3

7-0402-003

chr8:
18514784-18514784

C

A

intronic

De novo

-

Trost2022 G

PSD3

2-1787-003

chr8:
18485969-18485969

C

T

intronic

De novo

-

Trost2022 G

PSD3

2-1246-003

chr8:
18935260-18935260

T

C

intergenic

De novo

-

Yuen2017 G

PSD3

7-0189-003

chr8:
18489710-18489710

C

T

intronic

De novo

-

Trost2022 G

PSD3

2-1442-003

chr8:
19021908-19021908

T

A

intergenic

De novo

-

Yuen2016 G

PSD3

3-0604-000

chr8:
18710297-18710297

G

A

intronic

De novo

-

Trost2022 G

PSD3

MSSNG00439-003

chr8:
18751063-18751063

T

C

intronic

De novo

-

Trost2022 G

PSD3

1-0319-004

chr8:
18661553-18661553

C

A

intronic

De novo

-

Trost2022 G

PSD3

1-0634-003

chr8:
18683083-18683083

G

T

intronic

De novo

-

Trost2022 G

PSD3

MT_184.3

chr8:
18647884-18647884

C

T

intronic

De novo

-

Trost2022 G

PSD3

1-0319-004

chr8:
18661114-18661114

C

T

intronic

De novo

-

Trost2022 G

PSD3

3-0465-000

chr8:
18602797-18602797

C

T

intronic

De novo

-

Trost2022 G

PSD3

1-0051-004

chr8:
18617445-18617449

TTATC

AAAAA

intronic

De novo

-

Trost2022 G

PSD3

2-1408-003

chr8:
18389055-18389055

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

PSD3

SJD_46.3

chr8:
18785368-18785368

T

C

intronic

De novo

-

Trost2022 G

PSD3

11842.p1

chr8:
18730164-18730165

TC

T

exonic

De novo

frameshift deletion

NM_015310

c.209delG

p.G70fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PSD3

MSSNG00120-003

chr8:
18790269-18790269

C

A

intronic

De novo

-

Trost2022 G

PSD3

AU2320301

chr8:
18780931-18780931

G

T

intronic

De novo

-

Trost2022 G

PSD3

5-5177-003

chr8:
18784867-18784867

G

A

intronic

De novo

-

Trost2022 G

PSD3

1-1109-003

chr8:
18772332-18772332

T

C

intronic

De novo

-

Trost2022 G

PSD3

5-5177-003

chr8:
18775689-18775689

T

C

intronic

De novo

-

Trost2022 G

PSD3

1-0826-004

chr8:
18662235-18662235

A

G

exonic

De novo

nonsynonymous SNV

NM_206909
NM_015310

c.T206C
c.T1808C

p.V69A
p.V603A

26.5

8.244E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

PSD3

1-0885-003

chr8:
18737306-18737306

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

AU4103301

chr8:
18876013-18876013

A

G

intergenic

De novo

-

Yuen2017 G

PSD3

3-0497-001

chr8:
18757346-18757346

G

C

intronic

De novo

-

Trost2022 G

PSD3

MT_178.3

chr8:
18761935-18761935

G

A

intronic

De novo

-

Trost2022 G

PSD3

2-1562-003

chr8:
18403758-18403758

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

2-1715-003

chr8:
18563850-18563850

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSD3

AU2310301

chr8:
18842486-18842486

C

A

intronic

De novo

-

Trost2022 G

PSD3

3-0783-000

chr8:
18866899-18866899

C

G

intronic

De novo

-

Trost2022 G

PSD3

3-0819-000

chr8:
18818780-18818780

G

A

intronic

De novo

-

Trost2022 G

PSD3

3-0017-000

chr8:
18839899-18839899

T

C

intronic

De novo

-

Trost2022 G

PSD3

1-0051-005

chr8:
18911129-18911129

G

A

intergenic

De novo

-

Yuen2017 G

PSD3

AU3906301

chr8:
18629987-18629987

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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